BACKGROUND: Austism spectrum disorder (ASD) is a heterogeneous behavioral disorder or condition characterized by severe impairment of social engagement and the presence of repetitive activities. The molecular etiology of ASD is still largely unknown despite a strong genetic component. Part of the difficulty in turning genetics into disease mechanisms and potentially new therapeutics is the sheer number and diversity of the genes that have been associated with ASD and ASD symptoms. The goal of this work is to use shRNA-generated models of genetic defects proposed as causative for ASD to identify the common pathways that might explain how they produce a core clinical disability...

OBJECTIVE: In recent years a number of children have been adopted to Iceland. The aim of our study was to evaluate which factors may affect their mental and behavioural health. MATERIALS AND METHODS: Information was collected on the health of internationally adopted children in Iceland as well as on pre-adoptive risk factors. This was done using a survey developed by Dr. Dana Johnson from the International Adoption Project at the University of Minnesota in the United States...

Cholesterol is an essential component of cellular membranes that is required for normal lipid organization and cell signaling. While the mechanisms associated with maintaining cholesterol homeostasis in the plasma and peripheral tissues have been well studied, the role and regulation of cholesterol biosynthesis in normal brain function and development have proven much more challenging to investigate. Smith-Lemli-Opitz syndrome (SLOS) is a disorder of cholesterol synthesis characterized by mutations of 7-dehydrocholesterol reductase (DHCR7) that impair the reduction of 7-dehydrocholesterol (7DHC) to cholesterol and lead to neurocognitive deficits, including cerebellar hypoplasia and austism behaviors...

Autism Spectrum Disorders (ASD) are characterised by social and communication impairment, yet evidence for deficits in the ability to recognise facial expressions of basic emotions is conflicting. Many studies reporting no deficits have used stimuli that may be too simple (with associated ceiling effects), for example, 100% 'full-blown' expressions. In order to investigate subtle deficits in facial emotion recognition, 21 adolescent males with high-functioning Austism Spectrum Disorders (ASD) and 16 age and IQ matched typically developing control males completed a new sensitive test of facial emotion recognition which uses dynamic stimuli of varying intensities of expressions of the six basic emotions (Emotion Recognition Test; Montagne et al...

Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant...

The need for quantitative clinical evaluation tools for use in child psychiatry is obvious. Behavior rating scales are useful for comparing clinical and laboratory data, monitoring the effects of treatments, and enhancing communication between clinicians and investigators. The methodological principles used to construct and validate such tools are described. This approach is of benefit in most psychiatric disorders of children and adolescents. The questionnaires and scales most widely used throughout the world and available in French are reviewed...

The cause of infantile austism is as yet unknown. However, many studies have addressed the possibility of genetic transmission. Although a chromosomal abnormality has been outruled, an increasing number of studies in families and twins have shown that at least some symptoms of infantile autism may be transmitted genetically. However, up till now, transmission modalities and the exact nature of what is transmitted are unsure.

The diagnosis of behavioral and cognitive disorders in preschool children is difficult. Infantile austism is more likely to be diagnosed than is mental retardation. Yet most children with infantile autism are also mentally retarded, and many of those with severe and profound mental retardation show autistic behavior. Factors misleading professionals into overlooking mental retardation when assessing preschool children were discussed, and essential components in the management of preschool children with behavioral, developmental, or cognitive deviations were examined...